CONTEXT AND OBJECTIVE Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Scre...

BACKGROUND AND OBJECTIVES Hemoglobin Constant Spring (Hb CS), caused by a termination codon mutation (TAA-->CAA) in the a2 gene, is the most common non-deletional type of a thalassemia in Southeast Asia. This mutation can most easily be detected by loss of an MseI-restriction site (T/TAA) spanning the termination codon. Recently, we sequenced the a globin genes from patients with a thalassemia ...

Seven unrelated patients with hemoglobin (Hb) H disease and 27 individuals with alpha-chain structural alterations were studied to identify the alpha-globin gene mutations present in the population of Southeast Brazil. The -alpha3.7, --MED and -(alpha)20.5 deletions were investigated by PCR, whereas non-deletional alpha-thalassemia (alphaHphalpha, alphaNcoIalpha, alphaalphaNcoI, alphaIcalpha an...

This is a report of couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male female subjects β α-thalassemia carriers, respectively. Multiplex-Gap-PCR Sanger sequencing techniques used identification mutations β-globin genes. The DNA test showed presence c.315 + 1 G > A mutati...

Synthesis of globin chains in bone the heterozygotes, there was a signifimarrow and peipheral blood samples cant defect in beta synthesis in the from a black family with mild beta peripheral blood of white subjects, thalassemia was compared with simiwhile in two of three black patients the lar studies in white people. Blood and P/ ratio was in the normal range. Albone marrow were incubated with...

Information on the etiology of anemia is necessary to design effective anemia control programs. Our objective was to measure the prevalence of inherited hemoglobin disorders (IHD) in a representative sample of children in urban Cameroon, and examine the relationships between IHD and anemia. In a cluster survey of children 12-59 months of age (n = 291) in Yaoundé and Douala, we assessed hemoglob...

INTRODUCTION Sickle cell disease (SCD) is the most common inherited disorder of haemoglobin worldwide. This study evaluated the chromatographic patterns and red blood cell indices of sickle cell patients to determine the co-inheritance of other haemoglobin(Hb) variants and β-thalassaemia trait. METHODS Red cell indices, blood film, sickle solubility test, Hb electrophoresis using alkaline cel...

Background: Hb A2 is elevated in subjects with beta thalassemia minor but small percent of carriers have normal Hb A2 with elevated levels of HbF (2-10%). This type of thalassemia is called delta beta thalassemia, and can be missed in pre-marriage hematologic consults or screening which leads to increased risk of child birth with beta thalassemia major. Materials and Methods: In this prospe...

We report a case of beta-thalassemia/Hb Tak compound heterozygote. The 7 year-old Thai boy presented with plethora since birth. Hemoglobin electrophoresis showed a major band between Hb A2 and Hb F and absent Hb A. DNA sequencing study demonstrated an AC insertion at the terminal codon of the beta-globin gene. The clinical feature of polycythemia reflected a high oxygen affinity of Hb Tak.

CASE DESCRIPTION A sample submitted for hemoglobin (Hb) evaluation on a 5-day-old premature male infant with intestinal perforation, intraventricular hemorrhage, anemia, and sepsis contained 61.1% Hb A, 23.7% Hb F, 2.1% Hb A2, and peaks of 8.2% and 5.2% in the P2 and P3 regions of the Bio-Rad Variant II HPLC thalassemia assay (Fig. 1). Isoelectric focusing showed Hb A, Hb F, Hb A2, and a band c...